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The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V.
Lazarus S, McInerney-Leo AM, McKenzie FA, Baynam G, Broley S, Cavan BV, Munns CF, Pruijs JE, Sillence D, Terhal PA, Pryce K, Brown MA, Zankl A, Thomas G, Duncan EL. Lazarus S, et al. Among authors: mckenzie fa. BMC Musculoskelet Disord. 2014 Mar 27;15:107. doi: 10.1186/1471-2474-15-107. BMC Musculoskelet Disord. 2014. PMID: 24674092 Free PMC article.
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.
Halbritter J, Bizet AA, Schmidts M, Porath JD, Braun DA, Gee HY, McInerney-Leo AM, Krug P, Filhol E, Davis EE, Airik R, Czarnecki PG, Lehman AM, Trnka P, Nitschké P, Bole-Feysot C, Schueler M, Knebelmann B, Burtey S, Szabó AJ, Tory K, Leo PJ, Gardiner B, McKenzie FA, Zankl A, Brown MA, Hartley JL, Maher ER, Li C, Leroux MR, Scambler PJ, Zhan SH, Jones SJ, Kayserili H, Tuysuz B, Moorani KN, Constantinescu A, Krantz ID, Kaplan BS, Shah JV; UK10K Consortium; Hurd TW, Doherty D, Katsanis N, Duncan EL, Otto EA, Beales PL, Mitchison HM, Saunier S, Hildebrandt F. Halbritter J, et al. Among authors: mckenzie fa. Am J Hum Genet. 2013 Nov 7;93(5):915-25. doi: 10.1016/j.ajhg.2013.09.012. Epub 2013 Oct 17. Am J Hum Genet. 2013. PMID: 24140113 Free PMC article.
Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.
Baynam G, Bowman F, Lister K, Walker CE, Pachter N, Goldblatt J, Boycott KM, Gahl WA, Kosaki K, Adachi T, Ishii K, Mahede T, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, Vasudevan A, Hawkins A, Broley S, Schofield L, Verhoef H, Groza T, Zankl A, Robinson PN, Haendel M, Brudno M, Mattick JS, Dinger ME, Roscioli T, Cowley MJ, Olry A, Hanauer M, Alkuraya FS, Taruscio D, Posada de la Paz M, Lochmüller H, Bushby K, Thompson R, Hedley V, Lasko P, Mina K, Beilby J, Tifft C, Davis M, Laing NG, Julkowska D, Le Cam Y, Terry SF, Kaufmann P, Eerola I, Norstedt I, Rath A, Suematsu M, Groft SC, Austin CP, Draghia-Akli R, Weeramanthri TS, Molster C, Dawkins HJS. Baynam G, et al. Adv Exp Med Biol. 2017;1031:55-94. doi: 10.1007/978-3-319-67144-4_4. Adv Exp Med Biol. 2017. PMID: 29214566 Review.
The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service.
Baynam G, Pachter N, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, Vasudevan A, Hawkins A, Broley S, Schofield L, Verhoef H, Walker CE, Molster C, Blackwell JM, Jamieson S, Tang D, Lassmann T, Mina K, Beilby J, Davis M, Laing N, Murphy L, Weeramanthri T, Dawkins H, Goldblatt J. Baynam G, et al. Orphanet J Rare Dis. 2016 Jun 11;11(1):77. doi: 10.1186/s13023-016-0462-7. Orphanet J Rare Dis. 2016. PMID: 27287197 Free PMC article.
Initiating an undiagnosed diseases program in the Western Australian public health system.
Baynam G, Broley S, Bauskis A, Pachter N, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, Vasudevan A, Hawkins A, Schofield L, Helmholz P, Palmer R, Kung S, Walker CE, Molster C, Lewis B, Mina K, Beilby J, Pathak G, Poulton C, Groza T, Zankl A, Roscioli T, Dinger ME, Mattick JS, Gahl W, Groft S, Tifft C, Taruscio D, Lasko P, Kosaki K, Wilhelm H, Melegh B, Carapetis J, Jana S, Chaney G, Johns A, Owen PW, Daly F, Weeramanthri T, Dawkins H, Goldblatt J. Baynam G, et al. Orphanet J Rare Dis. 2017 May 3;12(1):83. doi: 10.1186/s13023-017-0619-z. Orphanet J Rare Dis. 2017. PMID: 28468665 Free PMC article.
A flexible computational pipeline for research analyses of unsolved clinical exome cases.
Lassmann T, Francis RW, Weeks A, Tang D, Jamieson SE, Broley S, Dawkins HJS, Dreyer L, Goldblatt J, Groza T, Kamien B, Kiraly-Borri C, McKenzie F, Murphy L, Pachter N, Pathak G, Poulton C, Samanek A, Skoss R, Slee J, Townshend S, Ward M, Baynam GS, Blackwell JM. Lassmann T, et al. NPJ Genom Med. 2020 Dec 10;5(1):54. doi: 10.1038/s41525-020-00161-w. NPJ Genom Med. 2020. PMID: 33303739 Free PMC article.
Atypical nested 22q11.2 duplications between LCR22B and LCR22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance.
Woodward KJ, Stampalia J, Vanyai H, Rijhumal H, Potts K, Taylor F, Peverall J, Grumball T, Sivamoorthy S, Alinejad-Rokny H, Wray J, Whitehouse A, Nagarajan L, Scurlock J, Afchani S, Edwards M, Murch A, Beilby J, Baynam G, Kiraly-Borri C, McKenzie F, Heng JIT. Woodward KJ, et al. Mol Genet Genomic Med. 2019 Feb;7(2):e00507. doi: 10.1002/mgg3.507. Epub 2019 Jan 4. Mol Genet Genomic Med. 2019. PMID: 30614210 Free PMC article.
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.
Meester JAN, Sukalo M, Schröder KC, Schanze D, Baynam G, Borck G, Bramswig NC, Duman D, Gilbert-Dussardier B, Holder-Espinasse M, Itin P, Johnson DS, Joss S, Koillinen H, McKenzie F, Morton J, Nelle H, Reardon W, Roll C, Salih MA, Savarirayan R, Scurr I, Splitt M, Thompson E, Titheradge H, Travers CP, Van Maldergem L, Whiteford M, Wieczorek D, Vandeweyer G, Trembath R, Van Laer L, Loeys BL, Zenker M, Southgate L, Wuyts W. Meester JAN, et al. Hum Mutat. 2018 Sep;39(9):1246-1261. doi: 10.1002/humu.23567. Epub 2018 Jul 4. Hum Mutat. 2018. PMID: 29924900 Free PMC article.
48 results